Faculty Collaboration Database

ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY. Retin Cases Brief Rep 2021 Nov 01;15(6):694-701

Date

07/16/2019

Pubmed ID

31306293

Pubmed Central ID

PMC6980308

DOI

10.1097/ICB.0000000000000891

Scopus ID

2-s2.0-85121014909 (requires institutional sign-in at Scopus site)   10 Citations

Abstract

PURPOSE: To describe in detail the phenotype of a patient with enhanced S-cone syndrome.

METHODS: We describe a 13-year-old boy who presented with blurred vision, vitreous cells, cystoid macular edema refractory to steroid treatment, and a negative uveitic workup. The patient underwent a complete ophthalmic examination, full-field electroretinograms (ffERG), automatic static perimetry and multimodal imaging with spectral domain optical coherence tomography, and adaptive optics scanning laser ophthalmoscopy (AOSLO).

RESULTS: Spectral domain optical coherence tomography demonstrated cystoid macular edema and a hyperthick, delaminated midperipheral retina. Fluorescein angiography did not demonstrate macular leakage. Rod-mediated ffERGs were undetectable, and there was a supernormal response to short-wavelength stimuli compared with photopically matched longer wavelengths of light consistent with enhanced S-cone syndrome. Gene screening was positive for compound heterozygous mutations NR2E3: a known (c.119-2 A>C) and a novel (c.119-1G>A) mutation. By perimetry, sensitivities were normal or above normal for short-wavelength stimuli; there was no detectable rod-mediated vision. AOSLO demonstrated higher than normal cone densities in the perifoveal retina and evidence for smaller outer segment cone diameters.

CONCLUSION: Evidence for supernumerary cones (at least twice the normal complement) by AOSLO and spectral domain optical coherence tomography was associated with supernormal S-cone sensitivities and electroretinogram responses confirming previous in vivo findings in postmortem human specimens. Smaller than normal cones in enhanced S-cone syndrome may represent "hybrid" photoreceptors analogous to the rd7/rd7 murine model of the disease.

Author List

Ammar MJ, Scavelli KT, Uyhazi KE, Bedoukian EC, Serrano LW, Edelstein ID, Vergilio G, Cooper RF, Morgan JIW, Kumar P, Aleman TS

Author

Robert F. Cooper Ph.D Assistant Professor in the Biomedical Engineering department at Marquette University

MESH terms used to index this publication - Major topics in bold

Adolescent
Eye Diseases, Hereditary
Humans
Male
Retinal Degeneration
Tomography, Optical Coherence
Vision Disorders